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Genetic epilepsy syndromes

Gene: STIL

Red List (low evidence)

STIL (STIL, centriolar assembly protein)
EnsemblGeneIds (GRCh38): ENSG00000123473
EnsemblGeneIds (GRCh37): ENSG00000123473
OMIM: 181590, Gene2Phenotype
STIL is in 6 panels

2 reviews

Rebecca Foulger (Genomics England curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Red, unless holoprosencephaly is considered. AR Primary microcephaly. Seizures don't seem to be a feature.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 7, primary, 612703

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Wessex and West Midlands GLH
Phenotypes
  • Microcephaly 7, primary, 612703
OMIM
181590
Clinvar variants
Variants in STIL
Penetrance
None
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: STIL was added gene: STIL was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,Expert Review Red,NHS GMS Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STIL were set to Microcephaly 7, primary, 612703